PMID- 28406128
OWN - NLM
STAT- MEDLINE
DCOM- 20190701
LR  - 20190701
IS  - 1119-3077 (Print)
VI  - 20
IP  - 4
DP  - 2017 Apr
TI  - Variations in the beta-globin genes of sickle cell anaemia patients in Zaria, 
      Northwestern, Nigeria.
PG  - 464-469
LID - 10.4103/1119-3077.196076 [doi]
AB  - CONTEXT: Sickle Cell Anaemia (SCA) is a genetic disorder with a life-long 
      disability, which is of public health importance. The diversity in its 
      clinico-pathologic and laboratory presentations may be due to the interplay 
      between additional genetic differences and environmental factors. The genetic 
      factors may be within the beta-globin gene itself, the beta-globin gene cluster or 
      elsewhere in the genome. AIM: To characterize the beta-globin gene for variations 
      associated with the Sickle Cell mutation. SETTINGS AND DESIGN: A cross-sectional 
      descriptive study involving 51 adult SCA patients attending Sickle Cell Clinic of 
      Haematology Department Ahmadu Bello University (ABUTH) Zaria, Kaduna State, 
      Nigeria. METHODS AND MATERIAL: The buccal swab specimens were collected and 
      beta-globin gene DNA sequencing was done. The sequences obtained were compared with 
      a Genbank Reference beta-globin gene (NC_000011.9) using Basic Local Alignment 
      Search Tool (BLAST), and variations noted. Data generated were analyzed using 
      SPSS Version 20.0. STATISTICAL ANALYSIS USED: Data generated was summarized by 
      using charts, means+/-2SD, and 95% confidence intervals. RESULTS: There were 40 
      (78.43%) females and 11 (21.57%) males. The mean age of the participants was 
      25.35 +/- 7.67 years, 95% CI (23.20, 27.51). The classic sickle cell mutation A T 
      was present in all participants. The mean number of beta-Globin gene variations was 
      8.61+/-11.30, 95% CI (5.43, 11.78). The number of Substitutions were 122 (27.79%), 
      insertions 184 (41.91%), and deletions 133 (30.30%). These occurred in various 
      combinations. The mean number of substitutions, insertions, and deletions were 
      2.39+/-3.23, 3.61+/-7.66, and 2.60+/-2.46 with 95% CIs of (1.48, 3.30), (1.45, 5.76), 
      and (1.92, 3.30) respectively. CONCLUSIONS: There are beta-globin gene variations in 
      SCA patients in Zaria, and locally relevant genetic database of the SCA 
      population will be the cornerstone in understanding genotype-phenotype 
      interactions in this disorder.
FAU - Awwalu, S
AU  - Awwalu S
AD  - Department of Haematology and Blood Transfusion, Ahmadu Bello University, 
      Teaching Hospital, Zaria, Nigeria.
FAU - Mamman, A I
AU  - Mamman AI
AD  - Department of Haematology and Blood Transfusion, Ahmadu Bello University, 
      Teaching Hospital, Zaria, Nigeria.
FAU - Hassan, A
AU  - Hassan A
AD  - Department of Haematology and Blood Transfusion, Ahmadu Bello University, 
      Teaching Hospital, Zaria, Nigeria.
FAU - Dogara, L G
AU  - Dogara LG
AD  - Department of Haematology and Blood Transfusion, Kaduna State University, Kaduna, 
      Nigeria.
FAU - Waziri, A D
AU  - Waziri AD
AD  - Department of Haematology and Blood Transfusion, Ahmadu Bello University, 
      Teaching Hospital, Zaria, Nigeria.
FAU - Aminu, S M
AU  - Aminu SM
AD  - Department of Haematology and Blood Transfusion, Ahmadu Bello University, 
      Teaching Hospital, Zaria, Nigeria.
FAU - Musa, A U
AU  - Musa AU
AD  - Department of Haematology and Blood Transfusion Usumanu, Danfodio University 
      Teaching Hospital, Sokoto, Nigeria.
FAU - Bello-Manga, H
AU  - Bello-Manga H
AD  - Department of Haematology and Blood Transfusion, Kaduna State University, Kaduna, 
      Nigeria.
LA  - eng
PT  - Journal Article
PL  - India
TA  - Niger J Clin Pract
JT  - Nigerian journal of clinical practice
JID - 101150032
RN  - 0 (Biomarkers)
RN  - 0 (beta-Globins)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Adult
MH  - Anemia, Sickle Cell/blood/epidemiology/*genetics
MH  - Biomarkers/blood
MH  - Cross-Sectional Studies
MH  - DNA/*genetics
MH  - Female
MH  - Genotype
MH  - Humans
MH  - Incidence
MH  - Male
MH  - Nigeria/epidemiology
MH  - Polymerase Chain Reaction
MH  - Sequence Analysis, DNA
MH  - beta-Globins/*genetics/metabolism
EDAT- 2017/04/14 06:00
MHDA- 2019/07/02 06:00
CRDT- 2017/04/14 06:00
PHST- 2017/04/14 06:00 [entrez]
PHST- 2017/04/14 06:00 [pubmed]
PHST- 2019/07/02 06:00 [medline]
AID - NigerJClinPract_2017_20_4_464_196076 [pii]
AID - 10.4103/1119-3077.196076 [doi]
PST - ppublish
SO  - Niger J Clin Pract. 2017 Apr;20(4):464-469. doi: 10.4103/1119-3077.196076.